Article
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Biochimica et biophysica acta - 1 Jan 2014
Almalki Abdulraheem, Alston Charlotte L, Parker Alasdair, Simonic Ingrid, Mehta Sarju G, He Langping, Reza Mojgan, Oliveira Jorge M A, Lightowlers Robert N, McFarland Robert, Taylor Robert W, Chrzanowska-Lightowlers Zofia M A
Abstract excerpt
Mitochondrial aminoacyl-tRNA synthetases (aaRSs) are essential enzymes in protein synthesis since they charge tRNAs with their cognate amino acids. Mutations in the genes encoding mitochondrial aaRSs have been associated with a wide spectrum of human mitochondrial diseases. Here we report the identification of pathogenic mutations (a partial genomic deletion and a highly conserved p. Asp325Tyr missense variant)...
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